Abstract:
:The autosomal dominant cerebellar ataxias (ADCA) type I are a group of neurological disorders that are clinically and genetically heterogeneous. Two genes implicated in the disease, SCA1 (spinal cerebellar ataxia 1) and SCA2, are already localized. We have mapped a third locus to chromosome 14q24.3-qter, by linkage analysis in a non-SCA1/non-SCA2 family and have confirmed its existence in a second such family. We suggest designating this new locus "SCA3". Combined analysis of the two families restricted the SCA3 locus to a 15-cM interval between markers D14S67 and D14S81. The gene for Machado-Joseph disease (MJD), a clinically different form of ADCA type I, has been recently assigned to chromosome 14q24.3-q32. Although the SCA3 locus is within the MJD region, linkage analyses cannot yet demonstrate whether they result from mutations of the same gene. Linkage to all three loci (SCA1, SCA2, and SCA3) was excluded in another family, which indicates the existence of a fourth ADCA type I locus.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Stevanin G,Le Guern E,Ravisé N,Chneiweiss H,Dürr A,Cancel G,Vignal A,Boch AL,Ruberg M,Penet Csubject
Has Abstract,Author List Incompletepub_date
1994-01-01 00:00:00pages
11-20issue
1eissn
0002-9297issn
1537-6605journal_volume
54pub_type
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journal_title:American journal of human genetics
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更新日期:1990-06-01 00:00:00
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